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Select item 35074211.

Clinical Geneticists’ Views of VACTERL/VATER Association

Benjamin D. Solomon, Kelly A. Bear, Virginia Kimonis, Annelies de Klein, Daryl A. Scott, Charles Shaw-Smith, Dick Tibboel, Heiko Reutter, Philip F. Giampietro

Am J Med Genet A. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Am J Med Genet A. 2012 Dec; 158A(12): 3087–3100. Published online 2012 Nov 19. doi: 10.1002/ajmg.a.35638

PMCID:: PMC3507421

Abstract Article PDF–113K

Select item 25646342.

Revisiting the craniosynostosis‐radial ray hypoplasia association: Baller‐Gerold syndrome caused by mutations in the RECQL4 gene

L Van Maldergem, H A Siitonen, N Jalkh, E Chouery, M De Roy, V Delague, M Muenke, E W Jabs, J Cai, L L Wang, S E Plon, C Fourneau, M Kestilä, Y Gillerot, A Mégarbané, A Verloes

J Med Genet. 2006 Feb; 43(2): 148–152. Published online 2005 Jun 17. doi: 10.1136/jmg.2005.031781

PMCID:: PMC2564634

Abstract Article PDF–806K

Select item 30028493.

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

Piranit N Kantaputra, Eva Klopocki, Bianca P Hennig, Verayuth Praphanphoj, Cédric Le Caignec, Bertrand Isidor, Mei L Kwee, Deborah J Shears, Stefan Mundlos

Eur J Hum Genet. 2010 Dec; 18(12): 1310–1314. Published online 2010 Jul 21. doi: 10.1038/ejhg.2010.116

PMCID:: PMC3002849

Abstract Article PDF–305K

Select item 31694464.

VACTERL/VATER Association

Benjamin D Solomon

Orphanet J Rare Dis. 2011; 6: 56. Published online 2011 Aug 16. doi: 10.1186/1750-1172-6-56

PMCID:: PMC3169446

Abstract Article PDF–380K

Select item 32470185.

The Bacteriophage Lambda gpNu3 Scaffolding Protein Is an Intrinsically Disordered and Biologically Functional Procapsid Assembly Catalyst

Eva Margarita Medina, Benjamin T. Andrews, Eri Nakatani, Carlos Enrique Catalano

J Mol Biol. Author manuscript; available in PMC 2011 Dec 28.

Published in final edited form as: J Mol Biol. 2011 Sep 30; 412(4): 723–736. Published online 2011 Jul 29. doi: 10.1016/j.jmb.2011.07.045

PMCID:: PMC3247018

Abstract Article PDF–1.7M

Select item 32489336.

Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome

Janine Fiedler, Gabriele Strauß, Martin Wannack, Silke Schwiebert, Kerstin Seidel, Katja Henning, Eva Klopocki, Markus Schmugge, Gerhard Gaedicke, Harald Schulze

Haematologica. 2012 Jan; 97(1): 73–81. doi: 10.3324/haematol.2011.049619

PMCID:: PMC3248933

Abstract Article PDF–749K

Select item 33762727.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Jill A Rosenfeld, Ryan N Traylor, G Bradley Schaefer, Elizabeth W McPherson, Blake C Ballif, Eva Klopocki, Stefan Mundlos, Lisa G Shaffer, Arthur S Aylsworth, 1q21.1 Study Group

Eur J Hum Genet. 2012 Jul; 20(7): 754–761. Published online 2012 Feb 8. doi: 10.1038/ejhg.2012.6

PMCID:: PMC3376272

Abstract Article PDF–665K

Select item 34007308.

TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype

Chirag Patel, Lee Silcock, Dominic McMullan, Louise Brueton, Helen Cox

Eur J Hum Genet. 2012 Aug; 20(8): 863–869. Published online 2012 Feb 15. doi: 10.1038/ejhg.2012.16

PMCID:: PMC3400730

Abstract Article PDF–436K

Select item 34289159.

Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR

Cornelis A Albers, Dirk S Paul, Harald Schulze, Kathleen Freson, Jonathan C Stephens, Peter A Smethurst, Jennifer D Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone, Martijn H Breuning, Najet Debili, Panos Deloukas, Rémi Favier, Janine Fiedler, Catherine M Hobbs, Ni Huang, Matthew E Hurles, Graham Kiddle, Ingrid Krapels, Paquita Nurden, Claudia A L Ruivenkamp, Jennifer G Sambrook, Kenneth Smith, Derek L Stemple, Gabriele Strauss, Chantal Thys, Christel van Geet, Ruth Newbury-Ecob, Willem H Ouwehand, Cedric Ghevaert

Nat Genet. Author manuscript; available in PMC 2012 Oct 1.

Published in final edited form as: Nat Genet. 2012 Feb 26; 44(4): 435–S2. Published online 2012 Feb 26. doi: 10.1038/ng.1083

PMCID:: PMC3428915

Abstract Article PDF–1.1M

Select item 350062810.

RAPADILINO RECQL4 Mutant Protein Lacks Helicase and ATPase Activity

Deborah L. Croteau, Marie L. Rossi, Jennifer Ross, Lale Dawut, Christopher Dunn, Tomasz Kulikowicz, Vilhelm A. Bohr

Biochim Biophys Acta. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Biochim Biophys Acta. 2012 Nov; 1822(11): 1727–1734. Published online 2012 Jul 31. doi: 10.1016/j.bbadis.2012.07.014

PMCID:: PMC3500628

Abstract Article PDF–928K

Select item 256462311.

Breakpoints around the HOXD cluster result in various limb malformations

B Dlugaszewska, A Silahtaroglu, C Menzel, S Kübart, M Cohen, S Mundlos, Z Tümer, K Kjaer, U Friedrich, H‐H Ropers, N Tommerup, H Neitzel, V M Kalscheuer

J Med Genet. 2006 Feb; 43(2): 111–118. Published online 2005 Jun 24. doi: 10.1136/jmg.2005.033555

PMCID:: PMC2564623

Abstract Article PDF–814K

Select item 353724012.

Abnormal SDS-PAGE migration of cytosolic proteins can identify domains and mechanisms that control surfactant binding

Yunhua Shi, Richard A Mowery, Jonathan Ashley, Michelle Hentz, Alejandro J Ramirez, Basar Bilgicer, Hilda Slunt-Brown, David R Borchelt, Bryan F Shaw

Protein Sci. 2012 Aug; 21(8): 1197–1209. Published online 2012 Jun 12. doi: 10.1002/pro.2107

PMCID:: PMC3537240

Abstract Article PDF–1.0M

Select item 357629413.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska

BMC Med Genet. 2013; 14: 13. Published online 2013 Jan 24. doi: 10.1186/1471-2350-14-13

PMCID:: PMC3576294

Abstract Article PDF–966K

Select item 360313414.

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

G Kirov, A J Pocklington, P Holmans, D Ivanov, M Ikeda, D Ruderfer, J Moran, K Chambert, D Toncheva, L Georgieva, D Grozeva, M Fjodorova, R Wollerton, E Rees, I Nikolov, L N van de Lagemaat, À Bayés, E Fernandez, P I Olason, Y Böttcher, N H Komiyama, M O Collins, J Choudhary, K Stefansson, H Stefansson, S G N Grant, S Purcell, P Sklar, M C O'Donovan, M J Owen

Mol Psychiatry. 2012 Feb; 17(2): 142–153. Published online 2011 Nov 15. doi: 10.1038/mp.2011.154

PMCID:: PMC3603134

Abstract Article PDF–966K

Select item 383107415.

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

Alina Hilger, Charlotte Schramm, Tracie Pennimpede, Lars Wittler, Gabriel C Dworschak, Enrika Bartels, Hartmut Engels, Alexander M Zink, Franziska Degenhardt, Annette M Müller, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Stefanie Märzheuser, Stuart Hosie, Stefan Holland-Cunz, Charlotte HW Wijers, Carlo LM Marcelis, Iris ALM van Rooij, Friedhelm Hildebrandt, Bernhard G Herrmann, Markus M Nöthen, Michael Ludwig, Heiko Reutter, Markus Draaken

Eur J Hum Genet. 2013 Dec; 21(12): 1377–1382. Published online 2013 Apr 3. doi: 10.1038/ejhg.2013.58

PMCID:: PMC3831074

Abstract Article PDF–1010K

Select item 383537016.

Genomic Characterization of the Inherited Bone Marrow Failure Syndromes

Payal P. Khincha, Sharon A. Savage

Semin Hematol. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Semin Hematol. 2013 Oct; 50(4): 10.1053/j.seminhematol.2013.09.002. doi: 10.1053/j.seminhematol.2013.09.002

PMCID:: PMC3835370

Abstract Article PDF–885K

Select item 384906117.

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

Irene Bottillo, Marco Castori, Carmelilia De Bernardo, Romano Fabbri, Barbara Grammatico, Nicoletta Preziosi, Giovanna Sforzolini Scassellati, Evelina Silvestri, Antonella Spagnuolo, Luigi Laino, Paola Grammatico

BMC Res Notes. 2013; 6: 376. Published online 2013 Sep 22. doi: 10.1186/1756-0500-6-376

PMCID:: PMC3849061

Abstract Article PDF–1.4M

Select item 442696418.

Inherited bone marrow failure syndromes in adolescents and young adults

David B. Wilson, Daniel C. Link, Philip J. Mason, Monica Bessler

Ann Med. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Ann Med. 2014 Sep; 46(6): 353–363. Published online 2014 Jun 3. doi: 10.3109/07853890.2014.915579

PMCID:: PMC4426964

Abstract Article PDF–1.7M

Select item 1118974819.

Dissecting 16p11.2 hemi-deletion to study sex-specific striatal phenotypes of neurodevelopmental disorders

Jaekyoon Kim, Yann Vanrobaeys, Benjamin Kelvington, Zeru Peterson, Emily Baldwin, Marie E. Gaine, Thomas Nickl-Jockschat, Ted Abel

Mol Psychiatry. Author manuscript; available in PMC 2024 Jun 21.

Published in final edited form as: Mol Psychiatry. 2024 May; 29(5): 1310–1321. Published online 2024 Jan 26. doi: 10.1038/s41380-024-02411-0

PMCID:: PMC11189748

Abstract Article PDF–1.4M

Select item 104880120.

A case of the orocraniodigital (Juberg-Hayward) syndrome.

N C Nevin, P Henry, P T Thomas

J Med Genet. 1981 Dec; 18(6): 478–480. doi: 10.1136/jmg.18.6.478

PMCID:: PMC1048801

Summary Page Browse PDF–790K

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